A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9934



Internal ID15501160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:14730738..15173654hg38UCSC Ensembl
OuterchrX:14748860..15191776hg19UCSC Ensembl
OuterchrX:14658781..15101697hg18UCSC Ensembl
OuterchrX:14508517..14951433hg17UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38442917
hg19442917
hg18442917
hg17442917
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28212
SamplesNA18860
Known GenesFANCB, GLRA2, MOSPD2
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv9934
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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